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المصدر: Journal of Inherited Metabolic Disease. 16:425-434
مصطلحات موضوعية: Adenosine monophosphate, Purine, Formates, Adenylate kinase, Biology, chemistry.chemical_compound, Adenosine Triphosphate, Adenine nucleotide, Intellectual Disability, Genetics, medicine, Humans, Child, Adenylosuccinate lyase, Cells, Cultured, Genetics (clinical), Hypoxanthine, Adenylosuccinate lyase deficiency, Adenylosuccinate Lyase, Fibroblasts, Ribonucleotides, Aminoimidazole Carboxamide, medicine.disease, Molecular biology, Adenosine Monophosphate, chemistry, Biochemistry, Hypoxanthines, Adenylosuccinate
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3bc6cf54e225447f17c981c1bac8db50Test
https://doi.org/10.1007/bf00710293Test -
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المؤلفون: Irène Ceballos-Picot, Arnold Munnich, Jeanne Amiel, Marie-Françoise Vincent, G Bourrouillou, Laurence Faivre, Muriel Holder-Espinasse, Marie-Cécile Nassogne, Sabine Marie, Cormier-Daire
المصدر: Scopus-Elsevier
مصطلحات موضوعية: Inosine monophosphate, medicine.medical_specialty, Microcephaly, Biology, Models, Biological, chemistry.chemical_compound, Seizures, Internal medicine, Intellectual Disability, Genetics, medicine, Humans, Purine metabolism, Adenylosuccinate lyase, Genetics (clinical), Adenylosuccinate lyase deficiency, Adenylosuccinate Lyase, Facies, West Syndrome, medicine.disease, Aminoimidazole Carboxamide, Maxillofacial Abnormalities, Endocrinology, chemistry, Purines, Child, Preschool, Adenylosuccinate, Female, Letter to JMG
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::986723a49fb4d21afaf954c32af843b7Test
https://pubmed.ncbi.nlm.nih.gov/12070256Test -
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المساهمون: UCL - MD/BICL - Département de biochimie et de biologie cellulaire, UCL - MD/GYPE - Département de gynécologie, d'obstétrique et de pédiatrie, UCL - (SLuc) Service de neurologie pédiatrique, UCL - MD/NOPS - Département de neurologie et de psychiatrie
المصدر: American journal of human genetics, Vol. 71, no. 1, p. 14-21 (2002)
مصطلحات موضوعية: Untranslated region, DNA, Complementary, Five prime untranslated region, Molecular Sequence Data, Mutation, Missense, Biology, chemistry.chemical_compound, Mental Retardation, Intellectual Disability, medicine, Genetics, Missense mutation, Coding region, Humans, Genetics(clinical), RNA, Messenger, Cloning, Molecular, Adenylosuccinate lyase, Promoter Regions, Genetic, Gene, Genetics (clinical), Alleles, Adenylosuccinate lyase deficiency, Binding Sites, Epilepsy, Base Sequence, Adenylosuccinate Lyase, Chromosome Mapping, Articles, medicine.disease, Molecular biology, GA-Binding Protein Transcription Factor, DNA-Binding Proteins, chemistry, Adenylosuccinate, Mutation, Mutagenesis, Site-Directed, Female, Promoter Regions (Genetics), 5' Untranslated Regions, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::310f5e738bae2d2880ff70065d1b56d3Test
https://pubmed.ncbi.nlm.nih.gov/12016589Test -
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المصدر: Human molecular genetics. 9(14)
مصطلحات موضوعية: Time Factors, Genotype, Recombinant Fusion Proteins, Mutation, Missense, Biology, medicine.disease_cause, chemistry.chemical_compound, Intellectual Disability, Genetics, medicine, Humans, Thermolabile, Adenylosuccinate lyase, Purine metabolism, Molecular Biology, Genetics (clinical), Adenylosuccinate lyase deficiency, chemistry.chemical_classification, Mutation, Homozygote, Adenylosuccinate Lyase, Temperature, General Medicine, Riboside, Fibroblasts, medicine.disease, Aminoimidazole Carboxamide, Adenosine Monophosphate, Recombinant Proteins, Kinetics, Enzyme, chemistry, Biochemistry, Adenylosuccinate, Chromatography, Gel, Electrophoresis, Polyacrylamide Gel, Ribonucleosides, 5' Untranslated Regions, Metabolism, Inborn Errors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abe022861dcccca9f1513352e0071971Test
https://pubmed.ncbi.nlm.nih.gov/10958654Test -
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المصدر: Journal of inherited metabolic disease. 16(2)
مصطلحات موضوعية: Purine, Adenosine monophosphate, medicine.medical_specialty, Binding, Competitive, Potassium Chloride, Substrate Specificity, chemistry.chemical_compound, Internal medicine, Intellectual Disability, Genetics, medicine, Humans, Nucleotide, Fibroblast, Adenylosuccinate lyase, Child, Genetics (clinical), Cells, Cultured, Adenylosuccinate lyase deficiency, chemistry.chemical_classification, Nucleotides, organic chemicals, Adenylosuccinate Lyase, Fibroblasts, Hydrogen-Ion Concentration, Ribonucleotides, medicine.disease, Aminoimidazole Carboxamide, Chromatography, Ion Exchange, Adenosine Monophosphate, Kinetics, medicine.anatomical_structure, Endocrinology, chemistry, Adenylosuccinate, bacteria, Female, Nucleoside
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49157f6cc659af224cb085ad3371ffdaTest
https://pubmed.ncbi.nlm.nih.gov/8412002Test